Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy
Joint Authors
Lin, Benjamin R.
Frausto, Ricardo F.
Vo, Rosalind C.
Chiu, Stephan Y.
Chen, Judy L.
Aldave, Anthony J.
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-06-12
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Purpose.
To report the identification of the first de novo UBIAD1 missense mutation in an individual with Schnyder corneal dystrophy (SCD).
Methods.
A slit lamp examination was performed on a 47-year-old woman without a family history of corneal disorders.
The proband’s parents, two sisters, and son were also examined and genomic DNA from all six individuals was collected.
The exons and exon-intron boundaries of UBIAD1 were screened using Sanger sequencing.
Identified mutations were screened for in 200 control chromosomes.
In silico analysis predicted the impact of identified mutations on protein function and structure.
Results.
Slit lamp examination of the proband revealed findings consistent with SCD.
Corneas of the family members appeared unaffected.
Screening of UBIAD1 in the proband identified a novel heterozygous c.308C>T mutation, predicted to encode the missense amino acid substitution p.(Thr103Ile).
This mutation was not identified in any of the family members or in 200 control chromosomes and was predicted to be damaging to normal protein function and structure.
Conclusions.
We present a novel heterozygous de novo missense mutation in UBIAD1, p.(Thr103Ile), identified in a patient with classic clinical features of SCD.
This highlights the value of genetic testing in clinical diagnostic settings, even in the absence of a positive family history.
American Psychological Association (APA)
Lin, Benjamin R.& Frausto, Ricardo F.& Vo, Rosalind C.& Chiu, Stephan Y.& Chen, Judy L.& Aldave, Anthony J.. 2016. Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. Journal of Ophthalmology،Vol. 2016, no. 2016, pp.1-9.
https://search.emarefa.net/detail/BIM-1109878
Modern Language Association (MLA)
Lin, Benjamin R.…[et al.]. Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. Journal of Ophthalmology No. 2016 (2016), pp.1-9.
https://search.emarefa.net/detail/BIM-1109878
American Medical Association (AMA)
Lin, Benjamin R.& Frausto, Ricardo F.& Vo, Rosalind C.& Chiu, Stephan Y.& Chen, Judy L.& Aldave, Anthony J.. Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. Journal of Ophthalmology. 2016. Vol. 2016, no. 2016, pp.1-9.
https://search.emarefa.net/detail/BIM-1109878
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1109878